Canonical Allele Identifier: CA1908772466
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493125G= , CM000672.2:g.49493125G= GRCh38
NC_000010.10:g.50701171G= , CM000672.1:g.50701171G= GRCh37
NC_000010.9:g.50371177G= NCBI36
NG_009442.1:g.50977C= , LRG_465:g.50977C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1813C= MANE Select ENSP00000348089.5:p.His605=
ENST00000681632.1:n.1891C=
ENST00000681659.1:c.1654C= ENSP00000505631.1:p.His552=
ENST00000355832.9:c.1813C= ENSP00000348089.5:p.His605=
ENST00000475116.1:n.275+7413C=
ENST00000623073.3:c.214C= ENSP00000485650.1:p.His72=
ENST00000623115.3:c.-70+7413C= ENSP00000485321.1:n.-70+7413C=
ENST00000623318.1:c.214C= ENSP00000485423.1:p.His72=
NM_000124.3:c.1813C= NP_000115.1:p.His605=
NM_001346440.1:c.1813C= NP_001333369.1:p.His605=
NM_000124.4:c.1813C= MANE Select NP_000115.1:p.His605=
NM_001346440.2:c.1813C= NP_001333369.1:p.His605=